Submissions for variant NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)

gnomAD frequency: 0.00118  dbSNP: rs45449298

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173820	SCV000224974	uncertain significance	not provided	2014-07-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000763727	SCV000894611	uncertain significance	Homocystinuria due to methylene tetrahydrofolate reductase deficiency; Neural tube defects, folate-sensitive; Schizophrenia; Thrombophilia due to thrombin defect	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081882	SCV001002447	benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000173820	SCV001370926	uncertain significance	not provided	2020-06-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001081882	SCV003808987	uncertain significance	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2022-03-14	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001081882	SCV002094625	likely benign	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	2020-01-13	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947466	SCV004762737	likely benign	MTHFR-related disorder	2022-04-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).